Variant report

Variant	rs118033599
Chromosome Location	chr11:45916586-45916587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:45916382-45916699	K562	blood:	n/a	chr11:45916562-45916572
2	MYC	chr11:45916458-45916663	K562	blood:	n/a	chr11:45916562-45916572
3	ZNF263	chr11:45916327-45916799	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45889972..45892712-chr11:45915582..45918547,2	K562	blood:
2	chr11:45915026..45916740-chr11:45938253..45939770,2	MCF-7	breast:
3	chr11:45915081..45916599-chr11:46391904..46393436,2	K562	blood:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121680	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45907600-45920800	Weak transcription	Right Atrium	heart
2	chr11:45908600-45917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:45910000-45917400	Weak transcription	Fetal Brain Female	brain
4	chr11:45914000-45920400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:45915000-45917600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:45915200-45917200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:45915200-45917400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:45915200-45917400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:45915200-45917600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:45915200-45918000	Weak transcription	Liver	Liver
11	chr11:45915400-45917400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:45915400-45917600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:45915400-45917600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:45915400-45917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:45915400-45917600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:45915600-45917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:45915600-45917600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:45915800-45917600	Enhancers	Fetal Muscle Leg	muscle
19	chr11:45916000-45916600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:45916000-45916600	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:45916000-45917800	Enhancers	Brain Hippocampus Middle	brain
22	chr11:45916200-45916600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:45916200-45916800	Enhancers	Brain Anterior Caudate	brain
24	chr11:45916200-45917400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:45916200-45918000	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:45916200-45918000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:45916400-45916600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:45916400-45916600	Genic enhancers	Brain Germinal Matrix	brain
29	chr11:45916400-45917400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:45916400-45918600	Enhancers	Fetal Brain Male	brain

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